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Links from Nucleotide

Items: 1 to 20 of 714

1.

rs1489095573 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:14169326 (GRCh38)
    19:14280138 (GRCh37)
    Canonical SPDI:
    NC_000019.10:14169325:G:A
    Gene:
    ADGRL1 (Varview), ADGRL1-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1488475910 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TGAGAAGG [Show Flanks]
      Chromosome:
      19:14170239 (GRCh38)
      19:14281052 (GRCh37)
      Canonical SPDI:
      NC_000019.10:14170239:TGAGAAGG:TGAGAAGGTGAGAAGG
      Gene:
      ADGRL1 (Varview), ADGRL1-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TGAGAAGGTGAGAAGG=0./0 (ALFA)
      TGAGAAGG=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1486840309 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:14170974 (GRCh38)
        19:14281786 (GRCh37)
        Canonical SPDI:
        NC_000019.10:14170973:C:A
        Gene:
        ADGRL1 (Varview), ADGRL1-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1485453310 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          19:14137221 (GRCh38)
          19:14248033 (GRCh37)
          Canonical SPDI:
          NC_000019.10:14137220:C:G,NC_000019.10:14137220:C:T
          Gene:
          ASF1B (Varview), ADGRL1-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1485200445 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G,T [Show Flanks]
            Chromosome:
            19:14169530 (GRCh38)
            19:14280342 (GRCh37)
            Canonical SPDI:
            NC_000019.10:14169529:A:C,NC_000019.10:14169529:A:G,NC_000019.10:14169529:A:T
            Gene:
            ADGRL1 (Varview), ADGRL1-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.009346/2 (Vietnamese)
            HGVS:
            6.

            rs1484728942 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:14170355 (GRCh38)
              19:14281167 (GRCh37)
              Canonical SPDI:
              NC_000019.10:14170354:T:C
              Gene:
              ADGRL1 (Varview), ADGRL1-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000026/7 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1483182836 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:14168798 (GRCh38)
                19:14279610 (GRCh37)
                Canonical SPDI:
                NC_000019.10:14168797:G:A
                Gene:
                ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1482835069 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:14137218 (GRCh38)
                  19:14248030 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:14137217:C:T
                  Gene:
                  ASF1B (Varview), ADGRL1-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1482585962 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    19:14170548 (GRCh38)
                    19:14281360 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:14170547:G:C
                    Gene:
                    ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1482493798 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:14169491 (GRCh38)
                      19:14280303 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:14169490:G:A,NC_000019.10:14169490:G:C
                      Gene:
                      ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482262365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:14170083 (GRCh38)
                        19:14280895 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:14170082:A:G
                        Gene:
                        ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1481713132 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:14169993 (GRCh38)
                          19:14280805 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:14169992:G:A
                          Gene:
                          ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1481678253 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:14155189 (GRCh38)
                            19:14266001 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:14155188:G:A
                            Gene:
                            ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1479975735 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:14171078 (GRCh38)
                              19:14281890 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:14171077:T:C
                              Gene:
                              ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1479945916 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:14170381 (GRCh38)
                                19:14281193 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:14170380:C:T
                                Gene:
                                ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1478876154 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  19:14169806 (GRCh38)
                                  19:14280618 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:14169805:A:C
                                  Gene:
                                  ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1476447013 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:14155474 (GRCh38)
                                    19:14266286 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:14155473:G:A
                                    Gene:
                                    ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.14155474G>A, NC_000019.9:g.14266286G>A, NW_021160022.1:g.367633G>A, NM_014921.5:c.3179C>T, NM_014921.4:c.3179C>T, XM_005259818.4:c.3179C>T, XM_005259818.3:c.3179C>T, XM_005259818.2:c.3179C>T, XM_005259818.1:c.3179C>T, XM_011527796.3:c.3215C>T, XM_011527796.2:c.3215C>T, XM_011527796.1:c.3215C>T, XM_011527798.3:c.3200C>T, XM_011527798.2:c.3200C>T, XM_011527798.1:c.3200C>T, NM_001008701.3:c.3194C>T, NM_001008701.2:c.3194C>T, XM_011527801.3:c.3086C>T, XM_011527801.2:c.2975C>T, XM_011527801.1:c.2975C>T, XM_024451420.2:c.3218C>T, XM_024451420.1:c.3218C>T, XM_017026476.2:c.3218C>T, XM_017026476.1:c.3218C>T, XM_017026475.2:c.3218C>T, XM_017026475.1:c.3218C>T, XM_017026477.2:c.3197C>T, XM_017026477.1:c.3197C>T, XM_017026478.2:c.3218C>T, XM_017026478.1:c.3218C>T, XM_017026479.2:c.3218C>T, XM_017026479.1:c.3218C>T, XM_017026480.2:c.3071C>T, XM_017026480.1:c.2960C>T, XM_047438414.1:c.3200C>T, XM_047438413.1:c.3218C>T, XM_047438416.1:c.3179C>T, XM_047438415.1:c.3179C>T, XM_047438417.1:c.3197C>T, XM_047438418.1:c.3179C>T, NR_045214.1:n.395G>A, XM_047438419.1:c.3086C>T, NP_055736.2:p.Ala1060Val, XP_005259875.1:p.Ala1060Val, XP_011526098.1:p.Ala1072Val, XP_011526100.1:p.Ala1067Val, NP_001008701.1:p.Ala1065Val, XP_011526103.2:p.Ala1029Val, XP_024307188.1:p.Ala1073Val, XP_016881965.1:p.Ala1073Val, XP_016881964.1:p.Ala1073Val, XP_016881966.1:p.Ala1066Val, XP_016881967.1:p.Ala1073Val, XP_016881968.1:p.Ala1073Val, XP_016881969.2:p.Ala1024Val, XP_047294370.1:p.Ala1067Val, XP_047294369.1:p.Ala1073Val, XP_047294372.1:p.Ala1060Val, XP_047294371.1:p.Ala1060Val, XP_047294373.1:p.Ala1066Val, XP_047294374.1:p.Ala1060Val, XP_047294375.1:p.Ala1029Val
                                    18.

                                    rs1475903798 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:14170947 (GRCh38)
                                      19:14281759 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:14170946:T:C
                                      Gene:
                                      ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.00003/8 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1474212111 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        19:14170057 (GRCh38)
                                        19:14280869 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:14170056:C:A
                                        Gene:
                                        ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1472173420 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:14169012 (GRCh38)
                                          19:14279824 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:14169011:C:T
                                          Gene:
                                          ADGRL1 (Varview), ADGRL1-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000029/4 (GnomAD)
                                          HGVS:

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